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NM_001330078.2(NRXN1):c.772+1043C>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 12, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000732172.4

Allele description [Variation Report for NM_001330078.2(NRXN1):c.772+1043C>G]

NM_001330078.2(NRXN1):c.772+1043C>G

Gene:
NRXN1:neurexin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_001330078.2(NRXN1):c.772+1043C>G
HGVS:
  • NC_000002.12:g.51026459G>C
  • NG_011878.1:g.11078C>G
  • NM_001135659.3:c.783C>G
  • NM_001330077.2:c.772+1043C>G
  • NM_001330078.2:c.772+1043C>GMANE SELECT
  • NM_001330079.2:c.772+1043C>G
  • NM_001330081.2:c.772+1043C>G
  • NM_001330082.2:c.772+1043C>G
  • NM_001330083.2:c.772+1043C>G
  • NM_001330084.2:c.772+1043C>G
  • NM_001330085.2:c.772+1043C>G
  • NM_001330086.2:c.772+1043C>G
  • NM_001330087.2:c.772+1043C>G
  • NM_001330088.2:c.772+1043C>G
  • NM_001330089.2:c.772+1043C>G
  • NM_001330090.2:c.772+1043C>G
  • NM_001330093.2:c.772+1043C>G
  • NM_001330094.2:c.772+1043C>G
  • NM_001330095.2:c.772+1043C>G
  • NM_001330096.2:c.772+1043C>G
  • NM_004801.6:c.772+1043C>G
  • NP_001129131.1:p.Phe261Leu
  • NC_000002.11:g.51253597G>C
Protein change:
F261L
Links:
dbSNP: rs1179583246
NCBI 1000 Genomes Browser:
rs1179583246
Molecular consequence:
  • NM_001330077.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330078.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330079.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330081.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330082.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330083.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330084.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330085.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330086.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330087.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330088.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330089.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330090.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330093.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330094.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330095.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330096.2:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004801.6:c.772+1043C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001135659.3:c.783C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000860085Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)		Uncertain significance
(Mar 12, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000860085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 1, 2023